| 1 | APR3, HPE1, HPE10, HPE12, HPE13, HPE14, HPE15, HPE16, HPE17, HPE2, HPE3, HPE4, HPE5, HPE6, HPE7, HPE8, HPE9, SHH, SIX3, TGIF, ZIC2
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| Array-CGH analysis indicates a high prevalence of genomic rearrangements in holoprosencephaly: an updated map of candidate loci.
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| Bendavid C, Rochard L, Dubourg C, Seguin J, Gicquel I, Pasquier L, Vigneron J, Laquerrière A, Marcorelles P, Jeanne-Pasquier C, Rouleau C, Jaillard S, Mosser J, Odent S, David V.
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| Hum Mutat 30(8):1175-82. 2009
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| 2 | HPE1, HPE10, HPE12, HPE17, HPE2, HPE3, HPE4, HPE5, HPE6, HPE7, HPE8, HPE9
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| Holoprosencephaly.
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| Dubourg C, Bendavid C, Pasquier L, Henry C, Odent S, David V.
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| Orphanet J Rare Dis 2:8. Review. 2007
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| 3 | HPE1, HPE10, HPE12, HPE14, HPE15, HPE16, HPE17, HPE2, HPE3, HPE4, HPE5, HPE6, HPE7, HPE8, HPE9
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| Abnormal sterol metabolism in holoprosencephaly: studies in cultured lymphoblasts.
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| Haas D, Morgenthaler J, Lacbawan F, Long B, Runz H, Garbade SF, Zschocke J, Kelley RI, Okun JG, Hoffmann GF, Muenke M.
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| J Med Genet 44(5):298-305. Epub 2007 Jan 19. 2007
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| 4 | HPE7, PTCH1
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| Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly.
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| Ming JE, Kaupas ME, Roessler E, Brunner HG, Golabi M, Tekin M, Stratton RF, Sujansky E, Bale SJ, Muenke M.
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| Hum Genet 110(4):297-301. Epub 2002 Mar 02. Erratum in: Hum Genet 2002 Oct;111(4-5):464. 2002
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| 5 | HPE10, HPE12, HPE17, HPE6, HPE7, HPE9
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| Holoprosencephaly: a paradigm for the complex genetics of brain development.
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| Roessler E, Muenke M.
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| J Inherit Metab Dis 21(5):481-97. Review. 1998
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